Congenital muscular dystrophy 1C

The congenital muscular dystrophy 1C (MDC1C) is a muscle disease from the group of congenital muscular dystrophies . The terms congenital muscular dystrophy with muscle hypertrophy and congenital muscular dystrophy-dystroglycanopathy type B5 (MDDGB5) are also used synonymously. The disease is autosomal - recessive inherited and belongs to the Dystroglykanopathien .

root cause

The MDC1C is caused by mutations in the FKRP gene .

Clinical manifestations

The disease begins in the first few months of life, muscle weakness and hypotension. Motor development is significantly delayed. Affected children can sit at most in their first decade or take a few steps with help. During the first 20 years of life, respiratory failure occurs due to involvement of the respiratory muscles . The heart muscles are also involved, and dilated cardiomyopathy develops . In addition, muscle hypertrophy of the leg muscles, and occasionally of the tongue muscles, is typical. The muscles of the face and shoulder are also often affected by muscular dystrophy and muscle weakness.

Diagnosis

Patients with MDC1C have a 20 to 75-fold increased creatine kinase concentration in the blood serum . As with other congenital muscular dystrophies, the muscle tissue is unspecifically changed dystrophically, so that a clear diagnosis by means of muscle biopsy and subsequent histological examination is not possible. A magnetic resonance imaging shows in some patients cysts of the cerebellum and rare structural changes in the brain. In isolated cases, cortical and subcortical brain atrophy as well as focal or diffuse changes in the white matter were detected. Heterotopia , cerebellar dysplasia , and hypoplasia of the bridge (pons) have been described in one patient. The diagnosis can be confirmed by means of molecular genetic diagnostics in connection with the clinical picture.

Demarcation

MDC1C is an allelic disease . Mutations in the FKRP gene can also lead to the phenotype of Walker-Warburg syndrome or muscle-eye-brain disease , both also congenital muscular dystrophies, or to the phenotype of limb muscular dystrophy 2I (LGMD2I, also limb-girdle muscular dystrophy dystroglycanopathy type C5, MDDGC for short ) to lead.

The phenotypes of Walker-Warburg syndrome and muscle-eye-brain disease caused by FKRP gene mutations have been summarized in the online catalog of Online Mendelian Inheritance in Man since 2011 as congenital muscular dystrophy dystroglycanopathy type A5 , or MDDGA5 for short .

Individual evidence

1. ↑ ^{a b c d e} S. E. Sparks, DM Escolar: Congenital muscular dystrophies. In: Handbook of clinical neurology / edited by PJ Vinken and GW Bruyn Volume 101, 2011, p. 62, ISSN  0072-9752 . doi : 10.1016 / B978-0-08-045031-5.00004-9 . PMID 21496624 . (Review).
2. ↑ MDDGB5.  In: Online Mendelian Inheritance in Man . (English)
3. ^ J. Amberger, C. Bocchini, A. Hamosh: A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®). In: Human mutation Volume 32, Number 5, May 2011, pp. 564-567, ISSN  1098-1004 . doi : 10.1002 / humu.21466 . PMID 21472891 .

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